{"orpha":280774,"name":"Generalized essential telangiectasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GET"],"definition":"A rare skin disease characterized by widespread cutaneous telangiectases usually first appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or confluent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280774/","orphanet_url":"https://www.orpha.net/en/disease/detail/280774","names":{"fr":{"name":"Télangiectasie essentielle généralisée","synonyms":["GET"],"definition":"Maladie rare de la peau caractérisée par des télangiectasies cutanées étendues apparaissant généralement sur les membres inférieurs et progressant lentement vers le haut du corps, affectant le tronc et les bras. Les lésions peuvent être diffuses, localisées, maculaires, à type de plaques, discrètes ou confluentes. Les cas de saignements récurrents de la peau et des muqueuses sont rares. De même, on n'observe pas d'anomalies épidermiques ou dermiques coexistantes, telle qu'une atrophie, une dépigmentation ou un purpura. La maladie n'est pas héréditaire. Afin d'établir le diagnostic, il convient d'écarter les autres télangiectasies primaires et secondaires."},"de":{"name":"Teleangiektasie, essentielle generalisierte","synonyms":["GET"],"definition":"Eine seltene Hautkrankheit, die durch generalisierte kutane Teleangiektasien gekennzeichnet ist, die gewöhnlich zuerst an den unteren Extremitäten auftreten und sich dann langsam auf den Rumpf und die Arme ausbreiten. Die Läsionen können diffus, lokalisiert, makulär, plaqueartig, diskret oder kongruent sein. Wiederkehrende Haut- und Schleimhautblutungen sind nicht häufig. Begleitende epidermale oder dermale Anomalien wie Atrophie, Depigmentierung oder Purpura treten nicht auf. Die Erkrankung ist nicht erblich, und zur Diagnosestellung müssen andere primäre und sekundäre Teleangiektasien ausgeschlossen werden."},"es":{"name":"Telangiectasia esencial generalizada","synonyms":["TEG"],"definition":"Es una enfermedad cutánea poco frecuente caracterizada por la presencia de telangiectasias generalizadas que suelen aparecer en primer lugar en las extremidades inferiores, progresando lentamente hacia arriba afectando al tronco y los brazos. Las lesiones pueden ser difusas, localizadas, maculares, en forma de placa, discretas o confluentes. El sangrado recurrente de la piel y de las membranas mucosas no es un hallazgo frecuente. Así mismo, no se presentan otras anomalías epidérmicas o dérmicas coexistentes, tales como la atrofia, la despigmentación o la púrpura. Se trata de un trastorno adquirido y para establecer el diagnóstico se deben excluir otras telangiectasias tanto primarias como secundarias."},"it":{"name":"Telangectasia essenziale generalizzata","synonyms":["GET"],"definition":"Si tratta di una malattia cutanea rara, caratterizzata da telangectasia cutanea diffusa, che di solito insorge dapprima negli arti inferiori, per poi diffondersi lentamente verso la parte superiore del corpo, interessando il tronco e le braccia. Le lesioni possono essere diffuse, localizzate, maculari, simil-placche, discrete o confluenti. Sono rare le emorragie ricorrenti della cute e delle mucose. Non si associa ad anomalie dell'epidermide o del derma (atrofia, depigmentazione o porpora). La malattia non è ereditaria. Per formulare la diagnosi, è necessario escludere le altre telangectasie primitive e secondarie."},"nl":{"name":"Gegeneraliseerde essentiële teleangiëctasie","synonyms":["GET"],"definition":"Een zeldzame huidziekte, gekarakteriseerd door wijdverspreide cutane teleangiëctasieën die meestal eerst verschijnen op onderste ledematen en dan traag naar boven evolueren om romp en armen aan te tasten. Laesies kunnen diffuus, gelokaliseerd, maculair, plaque-achtig, discreet, of confluerend zijn. Recidiverende bloeding van huid en slijmvlies is geen gangbaar kenmerk. Eveneens afwezig zijn bijkomende epidermale of dermale afwijkingen, zoals atrofie, depigmentatie, of purpura. De aandoening is niet erfelijk, en om de diagnose te stellen, dienen andere primaire en secundaire teleangiëctasieën uitgesloten te worden."},"pt":{"name":"Telangiectasia essencial generalizada","synonyms":["GET"]},"pl":{"name":"Teleangiektazja uogólniona","synonyms":["GET"]},"cs":{"name":"Generalizované esenciální teleangiektázie","synonyms":["GET"]},"uk":{"name":"Генералізована есенціальна телеангіектазія","synonyms":["GET"],"definition":"A rare skin disease characterized by widespread cutaneous telangiectases usually first appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or confluent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded."},"zh":{"name":"泛发性原发性毛细血管扩张症","synonyms":["GET"],"definition":"全身性原发性毛细血管扩张是一种罕见的皮肤病，以广泛的皮肤毛细血管扩张为特征，通常出现在下肢，缓慢向上累及躯干和手臂。病变可为弥漫性、局灶性、黄斑样、斑块样、分散性或局限性。皮肤和粘膜反复出血并不常见。同样，表皮或皮肤异常，如皮肤萎缩、色素脱失或紫癜不共存。这种情况是非遗传性的，须排除其他原发性和继发性毛细血管扩张症后才可诊断。"},"tr":{"name":"Jeneralize temel telenjiektazi","synonyms":["GET"]}},"xrefs":[{"source":"ICD-10","code":"I78.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF20.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"236046211"},{"source":"MONDO","code":"0008534","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562998","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0473555","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}